Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar | PMID:24033266, PMID:28492532 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar | PMID:24033266 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar | PMID:25741868 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar | | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by OMIM:600994 | ClinVar | PMID:9771715 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:14559215, PMID:19911014 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:17868390 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar | PMID:17868390, PMID:25741868 | autosomal dominant nonsyndromic deafness 5 | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:14676472 | Hearing Loss | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar | | pleomorphic xanthoastrocytoma | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | sensorineural hearing loss | | ISO | RGD:1349553 | 8554872 | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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Molecular Function
Disease Annotations
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References
References - curated
| 1. | Gregan J, etal., Biochim Biophys Acta 2003 Jul 14;1638(2):179-86. |
| 2. | NCBI rat LocusLink and RefSeq merged data October 15, 2003 |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD comprehensive gene curation |
| 7. | Van Laer L, etal., Nat Genet. 1998 Oct;20(2):194-7. |
Additional References at PubMed
| PMID:16023581 | PMID:18223688 | PMID:21522185 | PMID:26236191 | PMID:28045099 | PMID:28459430 |
Genomics
